JIMD Reports DOI 10.1007/8904_2016_6
CASE REPORT
Very Long-Chain Acyl-Coenzyme A Dehydrogenase Deficiency and Perioperative Management in Adult Patients M.M. Welsink-Karssies • J.A.W. Polderman • E.J. Nieveen van Dijkum • B. Preckel • W.S. Schlack • G. Visser • C.E. Hollak • J. Hermanides
Received: 28 April 2016 / Revised: 24 June 2016 / Accepted: 07 July 2016 # SSIEM and Springer-Verlag Berlin Heidelberg 2016
Abstract Surgery and anesthesia pose a threat to patients with very long-chain acyl-CoA dehydrogenase deficiency (VLCADD), because prolonged fasting, stress, and pain are known risk factors for the induction of metabolic derangement. The optimal perioperative management in these patients is unknown and the use of volatile agents and agents dissolved in fatty acids has been related to postoperative metabolic complications. However, the occurrence of metabolic derangement is multifactorial and depends, amongst others, on the severity of the mutation and residual enzyme activity. Current guidelines suggest avoiding both volatile anesthetics as well as propofol, which seriously limits the options for providing safe anesthesia. Therefore, we reviewed the available literature on the perioperative management of patients with VLCADD. We concluded that the use of some medications, such as volatile anesthetics, in patients with VLCADD
Communicated by: Pascale de Lonlay
M.M. Welsink-Karssies : J.A.W. Polderman (*) : B. Preckel : W.S. Schlack : J. Hermanides Department of Anesthesiology, Academic Medical Centre, University of Amsterdam, Meibergdreef 9, 1105 AZ Amsterdam, The Netherlands e-mail: [email protected] E.J. Nieveen van Dijkum Department of Surgery, Academic Medical Centre, Amsterdam, The Netherlands G. Visser Department of Metabolic Diseases, Wilhelmina Children’s Hospital, University Medical Center Utrecht, Utrecht, The Netherlands C.E. Hollak Division of Endocrinology and Metabolism, Department of Internal Medicine, Academic Medical Centre, Amsterdam, The Netherlands
might be wrongfully avoided and could in fact prevent metabolic derangement by the adequate suppression of pain and stress during surgery. We will illustrate this with a case report of an adult VLCADD patient undergoing minor surgery. Besides the use of remifentanil, anesthesia was uneventfully maintained with the use of sevoflurane, a volatile agent, and continuous glucose infusion. The patient was monitored with a continuous glucose meter and creatinine kinase measurements.
Introduction In patients with a very long-chain acyl-CoA dehydrogenase deficiency (VLCADD; EC # OMIM201475) the enzyme responsible for one of the first steps in the metabolism of fatty acids is deficient (Leslie et al. 1993; Redshaw and Stewart 2014). VLCADD is an autosomal recessive disorder with an estimated prevalence of 1:31,500–1:85,000 (Lindner et al. 2010; Arnold et al. 2009). The disorder is highly variable, and ranges from severe infantile disease to completely asymptomatic elderly individuals. Since the introduction of worldwide newborn screening, it has become clear that a significant number of the identified newborns with VLCADD actually have a very low risk for metabolic decompensation and may even remain fully asymptomatic if left untreated. The pathophysiology of VLCADD is complex. As in other fatty acid oxidation defects, a combination of hypoglycemia and toxicity of fatty acid intermediates can result in liver, brain, and heart injury. There is evidence of more general mitochondrial dysfunction in these disorders, including generation of reactive oxygen species and
JIMD Reports
calcium imbalance (Wajner and Amaral 2015). During catabolic circumstances such as prolonged fasting, stress, illness, and surgery, metabolic derangement can occur, resulting in hypoglycemia, myopathies (including cardiomyopathy), metabolic acidosis, and rhabdomyolysis (Leslie et al. 1993; Redshaw and Stewart 2014). Current treatment consists of avoiding catabolism with regular feedings and in some patients a restriction of long chain fatty acids, supplementation of medium chain triglycerides, and frequent carbohydrate intake to prevent activation of fatty acid metabolism (Arnold et al. 2009; Das et al. 2010). The metabolic derangement during surgery depends, amongst others, on disease severity which is related to residual enzyme activity. Nonsense mutations in the encoding gene (ACADVL) may result in a severe and early presentation of the disorder, but the more frequent missense mutations are associated with both severe and attenuated presentations. Perioperative care in patients with VLCADD should thus be individualized, but the evidence is scarce and the literature is conflicting (Table 1). The use of volatile agents and agents dissolved in a fatty solution is controversial, since they have been related to metabolic derangement (Fierobe et al. 1998). This limits the option to provide safe and stress-reducing anesthesia. The available evidence might however be biased by reports of symptomatic patients and consequently concern more severe presentations of VLCADD. Thus, a critical review of the available perioperative management is needed, as adequate management of VLCADD patients during surgery is crucial to prevent metabolic deterioration. We will highlight this by presenting a case report and critically review the available literature on perioperative management of patients with VLCADD.
Case Report Our patient is a 24-year-old woman with relatively mild VLCADD, diagnosed at the age of 16 months after severe hypoglycemia caused by metabolic derangement. (ACADVL mutations c. 104delC (p.Pro35LeufsX26) and c.848T>C (p.Val283Ala); lymphocyte enzyme activity 10 mmol/l) the amount of glucose should never be diminished, but must be treated with insulin (http://www.bimdg.org.uk/ guidelines/guidelines-adult.asp). To be able to monitor whether catabolism is sufficiently suppressed, it is important to monitor glucose and serum CK frequently. An increased CK is a sign of lysis of muscle cells, which could indicate rhabdomyolysis (Vanholder et al. 2000). The latter can even occur despite the administration of glucose, because during stress cortisol and catecholamines are released. According to Nishina et al., this could affect the insulin receptor which results in insulin resistance in the peripheral tissue. Rhabdomyolysis can thus occur when glucose levels are within normal range. A relative shortage of insulin causes a delay in glucose uptake within the cells, despite a normal glucose level. Insulin resistance is also associated with the accumulation of lipid intermediates such as long chain acyl-coA, which are presumed to be toxic and responsible for metabolic derangement (Morris and Turnbull 1998; Hoy et al. 2009). Thus, in case of an increase in CK, additional glucose needs to be administered. Postoperative Management and Discharge After surgery, the glucose infusion must be maintained until the patient can resume the normal oral intake (http://www. bimdg.org.uk/guidelines/guidelines-adult.asp). As previously mentioned, glucose infusion must be maintained even in case of hyperglycemia. To prevent catabolism, early signs of infection, pain, and surgical complications should be monitored as well and treated promptly (Redshaw and Stewart 2014).
rare disease, complications are serious and precautions are necessary. The most important cornerstones of the perioperative care are to minimize the fasting period and surgical stress. In addition, one needs to provide adequate glucose infusion (~2 mg/kg/min of glucose 10% in adults) and measure glucose and CK (summary Table 2). Volatile agents can be used safely; propofol and etomidate in a fatty emulsion are relatively contraindicated. Preoperative knowledge on functional fatty acid oxidation despite the VLCADD, e.g., by measuring the fatty acid oxidation flux, could be useful when preparing for surgery.
Take-Home Message Despite the conflicting literature addressing the perioperative management in patients with VLCADD (very longchain acyl-CoA dehydrogenase deficiency), volatile agents can be used safely if other important precautions are provided, such as an adequate glucose infusion and the minimization of the fasting period and surgical stress, taking into account the severity of the mutation. •
Author contributions: All authors contributed to the writing and editing of the manuscript:
– –
Contribution of the individual authors: MM Welsink-Karssies: Data collection, reviewing the available literature and writing a first draft of the manuscript, and processing the adjustments of the other authors JAW Polderman: data collection, critically reviewing the manuscript EJ Nieveen van Dijkum: surgeon performing the procedure, critically reviewing the manuscript BP Preckel: critically reviewing the manuscript WS Schlack: critically reviewing the manuscript, data collection G Visser: reviewing the available literature, critically reviewing the manuscript
– – – –
Summary and Recommendations After reviewing the literature we performed an uneventful surgical procedure in a patient with VLCADD. Although a
–
Table 2 Our current recommendations according to the available literature Preoperative care
Peroperative care
Glucose infusion
Laboratory measurements
Postoperative management
Low threshold for benzodiazepines as premedication
– Volatile agents: preferred – Propofol: relatively contraindicated – Etomidate (lipid formulation): relatively contraindicated
Age and weight based (~2 ml/kg/ h of glucose 10 % in adults)
Glucose and CK levels before and after surgery. If surgery >3 h, sample CK every 3 h during surgery. Increase glucose infusion if CK increases.
– Maintaining glucose infusion until normal oral intake – Prophylaxis with anti-emetics – Prevent catabolism by monitoring early signs of infection, pain, and surgical complications
JIMD Reports
– –
•
• • • • •
CE Hollak: reviewing the available literature, critically reviewing the manuscript, data collection, and treating metabolic specialist of the patient J Hermanides: anesthesiologist during the procedure, reviewing the available literature, critically reviewing the manuscript, and data collection J. Hermanides serves as guarantor for the article, accepts full responsibility for the work and/or the conduct of the study, had access to the data, and controlled the decision to publish. The conflict of interest form of the authors is included in the online submission. The authors hereby confirm independence from the sponsors and state that the content of the article has not been influenced by the sponsors. The informed consent of the patient is available. The authors hereby state that an ethics approval was not required. Keywords: VLCADD (very-long-chain-acyl-CoA dehydrogenase deficiency), perioperative management, metabolic derangement, volatile agents, propofol, adults.
References Arnold GL, van Hove J, Freedenberg D et al (2009) A delphi clinical practice protocol for the management of very long chain acylCoA dehydrogenase deficiency. Mol Genet Metab 96(3):85–90 British Inherited Metabolic Disease Group (2012) Guidelines for adult emergency managementlong chain fatty acid oxidation defects. http://www.bimdg.org.uk/guidelines/guidelines-adult.asp Das AM, Steuerwald U, Illsinger S (2010) Inborn errors of energy metabolism associated with myopathies. J Biomed Biotechnol: 340849 Diekman EF, Ferdinandusse S, van der Pol L (2015) Fatty acid oxidation flux predicts the clinical severity of VLCAD deficiency. Genet Med 17:989–994 Fierobe L, Nivoche Y, Mantz J, Elalaoui Y, Veber B, Desmonts JM (1998) Perioperative severe rhabdomyolysis revealing susceptibility to malignant hyperthermia. Anesthesiology 88(1):263–265 Hoy AJ, Brandon AE, Turner N et al (2009) Lipid and insulin infusion-induced skeletal muscle insulin resistance is likely due to metabolic feedback and not changes in Irs-1, Akt, or As160 phosphorylation. Am J Physiol Endocrinol Metab 297(1): E67–E75
Huidekoper HH, Ackermans MT, Ruiter AFC, Sauerwein HP, Wijburg FA (2014) Endogenous glucose production from infancy to adulthood: a non-linear regression model. Arch Dis Child 99 (12):1098–1102 Kleemann PP, Jantzen JP, Fenner R, Wiegand UW (1986) Preoperative increase in the plasma concentration of free fatty acids during minor elective interventions using a conventional anesthesia technic with enflurane. Anaesthesist 35(10):604–608 Leslie ND, Valencia CA, Strauss AW, Connor J, Zhang K (1993) Very long-chain acyl-coenzyme a dehydrogenase deficiency. In Pagon RA, Adam MP, Ardinger HH, Wallace SE, Amemiya A, Bean LJH, Bird TD et al (eds) Genereviews (R). Seattle Lindner M, Hoffmann GF, Matern D (2010) Newborn screening for disorders of fatty-acid oxidation: experience and recommendations from an expert meeting. J Inherit Metab Dis 33(5):521–526 Martin JM, Gillingham MB, Harding CO (2014) Use of propofol for short duration procedures in children with long chain 3hydroxyacyl-CoA dehydrogenase (Lchad) or trifunctional protein (Tfp) deficiencies. Mol Genet Metab 112(2):139–142 McKenney KA, Holman SJ (2002) Delayed postoperative rhabdomyolysis in a patient subsequently diagnosed as malignant hyperthermia susceptible. Anesthesiology 96(3):764–765 Morris AA, Turnbull DM (1998) Fatty acid oxidation defects in muscle. Curr Opin Neurol 11(5):485–490 Nishina K, Mikawa K, Maekawa N, Asano M, Obara H (1995) Effects of exogenous intravenous glucose on plasma glucose and lipid homeostasis in anesthetized infants. Anesthesiology 83 (2):258–263 Redshaw C, Stewart C (2014) Anesthetic agents in patients with very long-chain acyl-coenzyme a dehydrogenase deficiency: a literature review. Paediatr Anaesth 24(11):1115–1119 Rosenberg H, Pollock N, Schiemann A, Bulger T, Stowell K (2015) Malignant hyperthermia: a review. Orphanet J Rare Dis 10(1):93 Schmidt J, Hunsicker A, Irouschek A, Kohler H, Knorr C, Birkholz T (2009) Early recovery from anesthesia and extubation in an infant with very long chain acyl-CoA dehydrogenase deficiency using midazolam, mivacurium, and high dose remifentanil. Paediatr Anaesth 19(9):909–910 Steiner LA, Studer W, Baumgartner ER, Frei FJ (2002) Perioperative management of a child with very-long-chain acyl-coenzyme a dehydrogenase deficiency. Paediatr Anaesth 12(2):187–191 Vanholder R, Sever MS, Erek E, Lameire N (2000) Rhabdomyolysis. J Am Soc Nephrol 11(8):1553–1561 Vellekoop P, Diekman EF, van Tuijl I, de Vries MM, van Hasselt PM, Visser G (2011) Perioperative measures in very long chain acylCoA dehydrogenase deficiency. Mol Genet Metab 103(1):96–97 Wajner M, Amaral AU (2015) Mitochondrial dysfunction in fatty acid oxidation disorders: insights from human and animal studies. Biosci Rep 36(1):e00281 Wolf A, Weir P, Segar P, Stone J, Shield J (2001) Impaired fatty acid oxidation in propofol infusion syndrome. Lancet 357 (9256):606–607
CASE REPORT
Very Long-Chain Acyl-Coenzyme A Dehydrogenase Deficiency and Perioperative Management in Adult Patients M.M. Welsink-Karssies • J.A.W. Polderman • E.J. Nieveen van Dijkum • B. Preckel • W.S. Schlack • G. Visser • C.E. Hollak • J. Hermanides
Received: 28 April 2016 / Revised: 24 June 2016 / Accepted: 07 July 2016 # SSIEM and Springer-Verlag Berlin Heidelberg 2016
Abstract Surgery and anesthesia pose a threat to patients with very long-chain acyl-CoA dehydrogenase deficiency (VLCADD), because prolonged fasting, stress, and pain are known risk factors for the induction of metabolic derangement. The optimal perioperative management in these patients is unknown and the use of volatile agents and agents dissolved in fatty acids has been related to postoperative metabolic complications. However, the occurrence of metabolic derangement is multifactorial and depends, amongst others, on the severity of the mutation and residual enzyme activity. Current guidelines suggest avoiding both volatile anesthetics as well as propofol, which seriously limits the options for providing safe anesthesia. Therefore, we reviewed the available literature on the perioperative management of patients with VLCADD. We concluded that the use of some medications, such as volatile anesthetics, in patients with VLCADD
Communicated by: Pascale de Lonlay
M.M. Welsink-Karssies : J.A.W. Polderman (*) : B. Preckel : W.S. Schlack : J. Hermanides Department of Anesthesiology, Academic Medical Centre, University of Amsterdam, Meibergdreef 9, 1105 AZ Amsterdam, The Netherlands e-mail: [email protected] E.J. Nieveen van Dijkum Department of Surgery, Academic Medical Centre, Amsterdam, The Netherlands G. Visser Department of Metabolic Diseases, Wilhelmina Children’s Hospital, University Medical Center Utrecht, Utrecht, The Netherlands C.E. Hollak Division of Endocrinology and Metabolism, Department of Internal Medicine, Academic Medical Centre, Amsterdam, The Netherlands
might be wrongfully avoided and could in fact prevent metabolic derangement by the adequate suppression of pain and stress during surgery. We will illustrate this with a case report of an adult VLCADD patient undergoing minor surgery. Besides the use of remifentanil, anesthesia was uneventfully maintained with the use of sevoflurane, a volatile agent, and continuous glucose infusion. The patient was monitored with a continuous glucose meter and creatinine kinase measurements.
Introduction In patients with a very long-chain acyl-CoA dehydrogenase deficiency (VLCADD; EC # OMIM201475) the enzyme responsible for one of the first steps in the metabolism of fatty acids is deficient (Leslie et al. 1993; Redshaw and Stewart 2014). VLCADD is an autosomal recessive disorder with an estimated prevalence of 1:31,500–1:85,000 (Lindner et al. 2010; Arnold et al. 2009). The disorder is highly variable, and ranges from severe infantile disease to completely asymptomatic elderly individuals. Since the introduction of worldwide newborn screening, it has become clear that a significant number of the identified newborns with VLCADD actually have a very low risk for metabolic decompensation and may even remain fully asymptomatic if left untreated. The pathophysiology of VLCADD is complex. As in other fatty acid oxidation defects, a combination of hypoglycemia and toxicity of fatty acid intermediates can result in liver, brain, and heart injury. There is evidence of more general mitochondrial dysfunction in these disorders, including generation of reactive oxygen species and
JIMD Reports
calcium imbalance (Wajner and Amaral 2015). During catabolic circumstances such as prolonged fasting, stress, illness, and surgery, metabolic derangement can occur, resulting in hypoglycemia, myopathies (including cardiomyopathy), metabolic acidosis, and rhabdomyolysis (Leslie et al. 1993; Redshaw and Stewart 2014). Current treatment consists of avoiding catabolism with regular feedings and in some patients a restriction of long chain fatty acids, supplementation of medium chain triglycerides, and frequent carbohydrate intake to prevent activation of fatty acid metabolism (Arnold et al. 2009; Das et al. 2010). The metabolic derangement during surgery depends, amongst others, on disease severity which is related to residual enzyme activity. Nonsense mutations in the encoding gene (ACADVL) may result in a severe and early presentation of the disorder, but the more frequent missense mutations are associated with both severe and attenuated presentations. Perioperative care in patients with VLCADD should thus be individualized, but the evidence is scarce and the literature is conflicting (Table 1). The use of volatile agents and agents dissolved in a fatty solution is controversial, since they have been related to metabolic derangement (Fierobe et al. 1998). This limits the option to provide safe and stress-reducing anesthesia. The available evidence might however be biased by reports of symptomatic patients and consequently concern more severe presentations of VLCADD. Thus, a critical review of the available perioperative management is needed, as adequate management of VLCADD patients during surgery is crucial to prevent metabolic deterioration. We will highlight this by presenting a case report and critically review the available literature on perioperative management of patients with VLCADD.
Case Report Our patient is a 24-year-old woman with relatively mild VLCADD, diagnosed at the age of 16 months after severe hypoglycemia caused by metabolic derangement. (ACADVL mutations c. 104delC (p.Pro35LeufsX26) and c.848T>C (p.Val283Ala); lymphocyte enzyme activity 10 mmol/l) the amount of glucose should never be diminished, but must be treated with insulin (http://www.bimdg.org.uk/ guidelines/guidelines-adult.asp). To be able to monitor whether catabolism is sufficiently suppressed, it is important to monitor glucose and serum CK frequently. An increased CK is a sign of lysis of muscle cells, which could indicate rhabdomyolysis (Vanholder et al. 2000). The latter can even occur despite the administration of glucose, because during stress cortisol and catecholamines are released. According to Nishina et al., this could affect the insulin receptor which results in insulin resistance in the peripheral tissue. Rhabdomyolysis can thus occur when glucose levels are within normal range. A relative shortage of insulin causes a delay in glucose uptake within the cells, despite a normal glucose level. Insulin resistance is also associated with the accumulation of lipid intermediates such as long chain acyl-coA, which are presumed to be toxic and responsible for metabolic derangement (Morris and Turnbull 1998; Hoy et al. 2009). Thus, in case of an increase in CK, additional glucose needs to be administered. Postoperative Management and Discharge After surgery, the glucose infusion must be maintained until the patient can resume the normal oral intake (http://www. bimdg.org.uk/guidelines/guidelines-adult.asp). As previously mentioned, glucose infusion must be maintained even in case of hyperglycemia. To prevent catabolism, early signs of infection, pain, and surgical complications should be monitored as well and treated promptly (Redshaw and Stewart 2014).
rare disease, complications are serious and precautions are necessary. The most important cornerstones of the perioperative care are to minimize the fasting period and surgical stress. In addition, one needs to provide adequate glucose infusion (~2 mg/kg/min of glucose 10% in adults) and measure glucose and CK (summary Table 2). Volatile agents can be used safely; propofol and etomidate in a fatty emulsion are relatively contraindicated. Preoperative knowledge on functional fatty acid oxidation despite the VLCADD, e.g., by measuring the fatty acid oxidation flux, could be useful when preparing for surgery.
Take-Home Message Despite the conflicting literature addressing the perioperative management in patients with VLCADD (very longchain acyl-CoA dehydrogenase deficiency), volatile agents can be used safely if other important precautions are provided, such as an adequate glucose infusion and the minimization of the fasting period and surgical stress, taking into account the severity of the mutation. •
Author contributions: All authors contributed to the writing and editing of the manuscript:
– –
Contribution of the individual authors: MM Welsink-Karssies: Data collection, reviewing the available literature and writing a first draft of the manuscript, and processing the adjustments of the other authors JAW Polderman: data collection, critically reviewing the manuscript EJ Nieveen van Dijkum: surgeon performing the procedure, critically reviewing the manuscript BP Preckel: critically reviewing the manuscript WS Schlack: critically reviewing the manuscript, data collection G Visser: reviewing the available literature, critically reviewing the manuscript
– – – –
Summary and Recommendations After reviewing the literature we performed an uneventful surgical procedure in a patient with VLCADD. Although a
–
Table 2 Our current recommendations according to the available literature Preoperative care
Peroperative care
Glucose infusion
Laboratory measurements
Postoperative management
Low threshold for benzodiazepines as premedication
– Volatile agents: preferred – Propofol: relatively contraindicated – Etomidate (lipid formulation): relatively contraindicated
Age and weight based (~2 ml/kg/ h of glucose 10 % in adults)
Glucose and CK levels before and after surgery. If surgery >3 h, sample CK every 3 h during surgery. Increase glucose infusion if CK increases.
– Maintaining glucose infusion until normal oral intake – Prophylaxis with anti-emetics – Prevent catabolism by monitoring early signs of infection, pain, and surgical complications
JIMD Reports
– –
•
• • • • •
CE Hollak: reviewing the available literature, critically reviewing the manuscript, data collection, and treating metabolic specialist of the patient J Hermanides: anesthesiologist during the procedure, reviewing the available literature, critically reviewing the manuscript, and data collection J. Hermanides serves as guarantor for the article, accepts full responsibility for the work and/or the conduct of the study, had access to the data, and controlled the decision to publish. The conflict of interest form of the authors is included in the online submission. The authors hereby confirm independence from the sponsors and state that the content of the article has not been influenced by the sponsors. The informed consent of the patient is available. The authors hereby state that an ethics approval was not required. Keywords: VLCADD (very-long-chain-acyl-CoA dehydrogenase deficiency), perioperative management, metabolic derangement, volatile agents, propofol, adults.
References Arnold GL, van Hove J, Freedenberg D et al (2009) A delphi clinical practice protocol for the management of very long chain acylCoA dehydrogenase deficiency. Mol Genet Metab 96(3):85–90 British Inherited Metabolic Disease Group (2012) Guidelines for adult emergency managementlong chain fatty acid oxidation defects. http://www.bimdg.org.uk/guidelines/guidelines-adult.asp Das AM, Steuerwald U, Illsinger S (2010) Inborn errors of energy metabolism associated with myopathies. J Biomed Biotechnol: 340849 Diekman EF, Ferdinandusse S, van der Pol L (2015) Fatty acid oxidation flux predicts the clinical severity of VLCAD deficiency. Genet Med 17:989–994 Fierobe L, Nivoche Y, Mantz J, Elalaoui Y, Veber B, Desmonts JM (1998) Perioperative severe rhabdomyolysis revealing susceptibility to malignant hyperthermia. Anesthesiology 88(1):263–265 Hoy AJ, Brandon AE, Turner N et al (2009) Lipid and insulin infusion-induced skeletal muscle insulin resistance is likely due to metabolic feedback and not changes in Irs-1, Akt, or As160 phosphorylation. Am J Physiol Endocrinol Metab 297(1): E67–E75
Huidekoper HH, Ackermans MT, Ruiter AFC, Sauerwein HP, Wijburg FA (2014) Endogenous glucose production from infancy to adulthood: a non-linear regression model. Arch Dis Child 99 (12):1098–1102 Kleemann PP, Jantzen JP, Fenner R, Wiegand UW (1986) Preoperative increase in the plasma concentration of free fatty acids during minor elective interventions using a conventional anesthesia technic with enflurane. Anaesthesist 35(10):604–608 Leslie ND, Valencia CA, Strauss AW, Connor J, Zhang K (1993) Very long-chain acyl-coenzyme a dehydrogenase deficiency. In Pagon RA, Adam MP, Ardinger HH, Wallace SE, Amemiya A, Bean LJH, Bird TD et al (eds) Genereviews (R). Seattle Lindner M, Hoffmann GF, Matern D (2010) Newborn screening for disorders of fatty-acid oxidation: experience and recommendations from an expert meeting. J Inherit Metab Dis 33(5):521–526 Martin JM, Gillingham MB, Harding CO (2014) Use of propofol for short duration procedures in children with long chain 3hydroxyacyl-CoA dehydrogenase (Lchad) or trifunctional protein (Tfp) deficiencies. Mol Genet Metab 112(2):139–142 McKenney KA, Holman SJ (2002) Delayed postoperative rhabdomyolysis in a patient subsequently diagnosed as malignant hyperthermia susceptible. Anesthesiology 96(3):764–765 Morris AA, Turnbull DM (1998) Fatty acid oxidation defects in muscle. Curr Opin Neurol 11(5):485–490 Nishina K, Mikawa K, Maekawa N, Asano M, Obara H (1995) Effects of exogenous intravenous glucose on plasma glucose and lipid homeostasis in anesthetized infants. Anesthesiology 83 (2):258–263 Redshaw C, Stewart C (2014) Anesthetic agents in patients with very long-chain acyl-coenzyme a dehydrogenase deficiency: a literature review. Paediatr Anaesth 24(11):1115–1119 Rosenberg H, Pollock N, Schiemann A, Bulger T, Stowell K (2015) Malignant hyperthermia: a review. Orphanet J Rare Dis 10(1):93 Schmidt J, Hunsicker A, Irouschek A, Kohler H, Knorr C, Birkholz T (2009) Early recovery from anesthesia and extubation in an infant with very long chain acyl-CoA dehydrogenase deficiency using midazolam, mivacurium, and high dose remifentanil. Paediatr Anaesth 19(9):909–910 Steiner LA, Studer W, Baumgartner ER, Frei FJ (2002) Perioperative management of a child with very-long-chain acyl-coenzyme a dehydrogenase deficiency. Paediatr Anaesth 12(2):187–191 Vanholder R, Sever MS, Erek E, Lameire N (2000) Rhabdomyolysis. J Am Soc Nephrol 11(8):1553–1561 Vellekoop P, Diekman EF, van Tuijl I, de Vries MM, van Hasselt PM, Visser G (2011) Perioperative measures in very long chain acylCoA dehydrogenase deficiency. Mol Genet Metab 103(1):96–97 Wajner M, Amaral AU (2015) Mitochondrial dysfunction in fatty acid oxidation disorders: insights from human and animal studies. Biosci Rep 36(1):e00281 Wolf A, Weir P, Segar P, Stone J, Shield J (2001) Impaired fatty acid oxidation in propofol infusion syndrome. Lancet 357 (9256):606–607
